Little Jacob was delivered six weeks early after a “terrible” pregnancy, and only hours later, the baby’s leukemia diagnosis forced doctors to break yet another heartbreaking piece of news.
Processing manager Laura Stubley Down, 35, described it as a “horror” to find that Jacob, who was born via IVF last July, had a rare type of the illness. After a “worse than dreadful” pregnancy, Jacob was born six weeks early, according to Laura and her wife Tracey, a 45-year-old shop manager.
The family received the diagnosis of transient abnormal myelopoiesis (TAM), a rare bone marrow condition that typically only manifests in babies with Down syndrome, just eight hours after learning that their baby had suspected leukemia. Jacob’s parents are jubilant that he is miraculously in remission at the age of eight months, despite the fact that he is just the 21st known individual without the illness.
During a challenging pregnancy, Laura stated, “We were ecstatic to become parents for the first time when Jacob arrived six weeks early, but it wasn’t long before everything changed.” It was overwhelming to learn that your infant has leukemia. My world abruptly came to an end, and I was unsure of how to react.
Jacob has gone through a lot, so having him home with us now and in remission is the greatest. It’s been a tough period. After dating for 12 years and getting married in 2016, Laura and Tracey began IVF in December 2020. The Hertfordshire-based pair originally intended to use Tracey’s eggs for Laura to carry the child, but after two failed tries, they decided to use Laura’s eggs instead. The embryo transfer took place in November 2021.
It was quite an emotionally taxing event, so learning I was pregnant was both exhilarating and relief, according to Laura. But the pregnancy itself was terrible; I was miserable and in a lot of pain. I was routinely observed, but as the weeks passed, I began to sense something wasn’t quite right.
Laura went to the hospital on June 29, 2022, out of concern that she couldn’t feel her baby moving, and she went back the next day for a scan. After that, Laura underwent daily ultrasounds to diagnose her polyhydramnios, a condition in which the baby has too much amniotic fluid surrounding it.
When Laura’s waters broke in the middle of the night on July 4 at 34 weeks pregnant, she was transported to the hospital. Jacob was delivered via emergency C-section on July 4 and weighed 5 pounds, 8 ounces. Everything appeared to be alright, but because Jacob was born prematurely, he was transported to the NICU to be examined.
When I was recovering from the operation, Tracey was moving between the NICU and my ward. She first informed me that Jacob was being exposed to UV light because he had a small case of jaundice. She informed me he had a minor temperature but nothing to worry about a few hours later. Later we learned that he had a sepsis suspicion.
By the next morning, Tracey had already gone home to sleep when Laura was informed that the physicians had to talk with them both immediately. Tracey had already inside her house when Laura called to tell her she needed to return, according to Laura.
The sad news that Jacob may have leukemia was delivered to Tracey and Laura in a private room after their return to the hospital. The child needs to be transported to Addenbrooke’s Hospital in Cambridge for further testing a result.
When Laura heard the news, she claims that her “world froze,” and she continues, “I couldn’t understand how a baby could be born with cancer. That did not seem genuine. Until I had to begin informing others about Jacob’s illness, I don’t believe I truly digested any of it. Laura, who was still recovering from surgery, stayed behind when Tracey and Jacob were taken to the other hospital. The following day, Laura joined them.
When he arrived, investigations revealed Jacob may have had congenital leukemia, a rare blood illness that originates in the womb and affects just one in every five million newborns. Jacob received an official diagnosis of TAM following several rounds of testing and numerous hours of conversation. According to Laura, “Doctors believed that Jacob most likely had mosaic Down syndrome, a rare kind where all of the traits were not visible.
“Listening to all of these difficulties with our newborn was incredibly difficult. There was a lot to process.
Around 2% of all occurrences of Down syndrome are mosaic cases. There are fewer Down syndrome symptoms in people with mosaic Down syndrome, however, this is not always the case.
Jacob underwent treatment at Great Ormond Street Hospital to have the extra fluid surrounding his heart drained when he was just five days old. Yet the fluid reappeared a week later.
Jacob had treatment intravenously when it was determined that his leukemia-related white blood cell count was what was creating the fluid. The treatment was successful after four blood transfusions and seven chemotherapy doses.
The greatest news is that Jacob has been in remission since August 2022, according to Laura. Jacob is the 21st child with TAM without Down syndrome to be reported globally after genetic studies revealed he did not have mosaic Down syndrome.
Jacob was finally allowed to come home in August, and Tracey and Laura say they have been enjoying readjusting to family life as usual. It was incredibly traumatic to bring him home for the first time, but now he’s just like any other eight-month-old, according to Laura. “His personality is lively. He is quite loud, somewhat demanding, and clinging, which I believe is a result of his prolonged hospitalization.
Up to the age of five, Jacob will visit Addenbrooke’s Hospital every three months to have his blood analyzed. It’s concerning since there’s a 20% possibility that leukemia might recur fully, but I’m grateful that they check him out so frequently, Laura said.